Introduction
Nail Patella Syndrome (NPS) is a form of rare genetic disorder. It causes impairment of bones, joints, nails and even kidneys. An absence or immature kneecaps and thumbnails are responsible to cause Nail Patella Syndrome in an individual. Statistics of government agencies and hospitals says that one in every 50000 newborn babies is affected by this disease.
Scientists have established the close relation between glaucoma and nail patella syndrome. At several circumstances it has been found that a newborn affected with this rare disorder has no thumbnails or underdeveloped thumbnails. The mother of such babies and other family members has also found with an absence of thumbnails in most of the medical examinations. However, it is not clear yet, whether
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Genetic Skin Disorders (Oxford Monographs on Medical Genetics)This valuable text represents a comprehensive survey of well over 300 distinct inherited dermatologic conditions. Each disease entry follows a consist... Read More >Filed under Genetic Disorders by 
AML, (acute myelogenous leukemia), is an aggressive cancer of the bone marrow and blood. It is the most common type of leukemia. AML is also known by the following names-acute myeloblastic leukemia, acute myeloid leukemia, acute granulocytic leukemia or acute nonlymphocytic leukemia. Blood cells are malformed and useless. The cells can accumulate in parts of the body.
Acute myelogenous leukemia statistics
* Rare in people under 40 years old
* More common in men than in women
* Average age is 65 years old
* 5-year survival
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Genetics and Auditory DisordersAn understanding of genetics enhances both auditory research and the clinical management of individuals with hearing impairment, which is genetic in m... Read More >Filed under Genetic Disorders by
There are many conditions that happen to individuals, explained and unexplained. In hypertrichosis, you will find a wide range of probably answers but not all of them will be the answers you are looking for. The best relief from conditions like these is to seek the advice of your doctor.
Hypertrichosis is a medical condition that causes excessive growth of hair in areas where hair does not normally grow. It may be present over the entire body, or you could have it in only one or more areas. Some individuals will be born with the condition and others will develop it later on in life.
Congenital Hypertrichosis is very rare. In fact, it is so rare
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Genetic and Acquired Disorders: Current Topics and Interventions for EducatorsWritten for school psychologists, counselors, administrators, and teachers, this volume outlines issues affecting children who are born with or acquire a medical disorder or disease.Filed under Genetic Disorders by
Though some congenital anomalies can be put down to genetic problems or environmental problems there is still a strong link between many congenital anomalies and umbilical cords while the baby is still in the womb. The umbilical cord is vital to the survival and good health of your baby and is relatively delicate, meaning that in some cases a small amount of damage can lead to your baby being born with one of several congenital anomalies. However, these cases are quite rare so there is little reason to worry about them unduly.
The length of your umbilical cord can vary widely from less than 35% to more than 80%. And the length of the cord can have an effect on your baby this is usually through knots or similar problems and not simply because the cord is either too long or too
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Genetic Skin Disorders (Oxford Monographs on Medical Genetics)This valuable text represents a comprehensive survey of well over 300 distinct inherited dermatologic conditions. Each disease entry follows a consist... Read More >Filed under Genetic Disorders by
Genes play an important role in shaping what we are today and for all our so-called genetic traits. The genetic information of parents is passed down to their children, grand children, or even great grand children. Similarly we have also inherited a number of genetic traits from our ancestors. All our physical characteristics, personality traits, and talents can be the result of the genetic make up of our ancestors.
We have 23 pairs of chromosomes in almost every cell in our body. Each pair consists of a chromosome from our mother and a chromosome from our father. The chromosomes carry genes, which are the segments of DNA that
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Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment (Milunsky, Genetic Disorders and the Fetus)Highly Commended in the Obstetrics and Gynaecology category of the 2010 BMA Medical Book Competition Brand new edition of the world’s ... Read More >
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Genetic diseases are surely one of the most dangerous factors for human’s health. These disorders are due to abnormalitites in genetic material (also known as genome) of humans. Genetic diseases are categorized in four main types according to where does the disorder happens.
The four types of Genetic disorders are:
1) Single-gene/monogenic Genetic Diseases: In this type of genetic diseases the abnormality happens in one gene. To be more specific, the starting point is a mutation in a single gene. This
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Apert Syndrome is a dominant genetic disorder occurring when a fetus inherits an abnormal gene from a parent suffering from the disease. The disease is also capable of occurring through sporadic mutation of genes (i.e. there is no family history of the disease).
The presence of the mutated gene causes an alteration in the structure of the fibroblast growth factor receptor two proteins. This protein acts to signal immature cells, causing them to develop into bone cells in embryo and fetus. Alteration in the structure causes the protein to send a prolonged signal, promoting the premature fusing of bones in the head, hands and feet of a fetus.
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Ataxia Telangiectasia is a disorder that causes the progressive degeneration of the brain. It is an extremely rare disorder only occurring in one in forty thousand to one in one hundred thousand people.
The disease is an autosomal recessive trait, thus a child must inherit an abnormal gene from both parents in order to develop the disease. There is a twenty five percent chance of this occurring if both parents are carriers of the mutated gene.
The initial symptoms of the disease will generally occur within the first ten years of life and include poor balance, speech difficulties and delayed development of motor skills. In some cases, small red spider veins may also develop around the eyes.
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Aicardi Syndrome is a disorder that generally only affects females (there have been two male cases documented in history, however these patients were documented as having an XXY genotype as opposed to an XY genotype). Those suffering form the condition are completely or partially lacking the corpus callosum- the structure that joins the two hemispheres of the brain.
The exact cause of aicardi syndrome is unknown, however some theories have suggested that the disorder may be associated with an abnormality on the X chromosome.
The disorder is extremely rare, with only five hundred known cases worldwide.
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Adrenoleukodystrophy is a disorder that results in damage to the myelin sheath surrounding the nerve cells of the brain. Myelin sheaths are required for the effective travel of impulses through the nerves, thus their degradation prevents impulses being conducted, leading to increasing disability of a person. The condition is characterized by increased levels of saturated, very long chain fatty acids in the brain. The accumulation of these fatty acids occurs due to a deficiency in the enzyme that is required to break them down. As the most common form of adrenoleukodystrophy is a disorder of the X chromosome, it is more likely to affects males than females.
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